| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47441675A>G | CA119255 | RAPSN | c.848T>C (p.Leu283Pro) c.789+148T>C (n.789+148T>C) c.689T>C (p.Leu230Pro) n.57T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441675A= | CA1969387585 | RAPSN | c.848T= (p.Leu283=) c.789+148T= (n.789+148T=) c.689T= (p.Leu230=) n.57T= | dbSNP |
| 11 | g.47441675A>T | CA380329330 | RAPSN | c.848T>A (p.Leu283Gln) c.789+148T>A (n.789+148T>A) c.689T>A (p.Leu230Gln) n.57T>A | dbSNP |